"GeneDx"[submitter] AND "MOV10L1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic
Select item 57701	GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	ACR, ADM2 +211 more	Copy number loss	See cases	GPathogenic
Select item 57704	GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	ACR, ADM2 +185 more	Copy number loss	See cases	GPathogenic
Select item 1238404	NM_018995.3(MOV10L1):c.544C>T (p.Arg182Cys)	MOV10L1 (R162C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1182415	NM_018995.3(MOV10L1):c.1293C>T (p.Leu431=)	MOV10L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1280924	NM_018995.3(MOV10L1):c.1309C>T (p.Leu437=)	MOV10L1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1290266	NM_018995.3(MOV10L1):c.1360A>C (p.Ile454Leu)	MOV10L1 (I434L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 151373	GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	ACR, ADM2 +124 more	Copy number loss	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic